Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers

Molecular Biology Reports

Volumn 38, Issue 5, 2011, Pages 3195-3200

  Ozdemir, Oztürk ^a,b   Sezgin, Ilhan ^a   Kurtulgan, Hande Kucuk ^a   Candan, Ferhan ^a   Koksal, Binnur ^a   Sumer, Haldun ^a   Icagasioglu, Dilara ^a   Uslu, Atilla ^c   Yildiz, Fazilet ^a   Arslan, Sulhattin ^a   Cetinkaya, Selma ^a   Citli, Senol ^a   Oztemur, Zekeriya ^a   Kayatas, Mansur ^a  

^a CUMHURIYET UNIVERSITY   (Turkey)

^b Faculty of Medicine   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Allelic frequencies; FMF; Sivas population; Turkey

Indexed keywords

ABDOMINAL PAIN; ADOLESCENT; ADULT; AGED; ARTHRITIS; ARTICLE; CHILD; CITY; CLINICAL FEATURE; COHORT ANALYSIS; CONSANGUINITY; ERYSIPELAS LIKE ERYTHEMA; ERYTHEMA; FAMILIAL MEDITERRANEAN FEVER; FAMILY HISTORY; FEMALE; FEVER; GENE; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYBRIDIZATION; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; MEFV GENE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION RATE; PERITONITIS; PLEURISY; PREVALENCE; REVERSE HYBRIDIZATION STRIP ASSAY;

ADOLESCENT; ADULT; AGED; CARRIER STATE; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; ETHNIC GROUPS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; TURKEY; YOUNG ADULT;

EID: 80052428205     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-010-9991-7     Document Type: Article

References (28)

1. Chae JJ, Aksentijevich I, Kastner DL (2009) Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy. Br J Haematol 146:467-478. doi: 10.1111/j.1365-2141.2009.07733
2. Yao Q, Furst DE (2008) Autoinflammatory diseases: an update of clinical and genetic aspects. Rheumatology (Oxford) 47:946-951. doi:10.1093/rheumatology/ ken118 (Pubitemid 351865913)
3. Ben-Chetrit E, Sagi M (2001) Genetic counselling in familial Mediterranean fever: has the time come? Rheumatology (Oxford) 40:606-609 (Pubitemid 32621796)
4. Bhat A, Naguwa SM, Gershwin ME (2007) Genetics and new treatment modalities for familial Mediterranean fever. Ann N Y Acad Sci 1110:201-208. doi:10.1196/annals.1423.022 (Pubitemid 350043009)
5. Goldfinger SE (1972) Colchicine for familial Mediterranean fever. N Engl J Med 287:1302
6. Nakamura A, Matsuda M, Tazawa K, Shimojima Y, Ikeda S (2007) Successful treatment with infliximab and low-dose methotrexate in a Japanese patient with familial Mediterranean fever. Intern Med 46:1247-1249. doi:10.2169/ internalmedicine. 46.0064 (Pubitemid 47354446)
7. Roldan R, Ruiz AM, Miranda MD, Collantes E (2008) Anakinra: new therapeutic approach in children with Familial Mediterranean Fever resistant to colchicine. Joint Bone Spine 75:504-505. doi:10.1016/j.jbspin.2008.04.001
8. Seyahi E, Ozdogan H, Celik S, Ugurlu S, Yazici H (2006) Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol 24:99-103
9. Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C et al (2000) The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95:3223-3231 (Pubitemid 30321178)
10. INFEVERS (2009) The registry of Familial Mediterranean Fever (FMF) and hereditary autoinflammatory disorders mutations. http://fmf.igh.cnrs.fr/ISSAID/ infevers/. Accessed 16 Sept 2009
11. Lidar M, Livneh A (2007) Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 65:318-324 (Pubitemid 350011355)
12. Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM et al (2009) Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum 60:1851-1861
13. Gunel-Ozcan A, Sayin DB, Misirlioǧlu ED, Güliter S, Yakaryilmaz F, Ensari C (2009) The spectrum of FMF mutations and genotypes in the referrals to molecular genetics laboratory at Kirikkale University in Turkey. Mol Biol Rep 36:757-760
14. Ozturk A, Elbosky E, Elsayed SM, Alhodhod M, Akar N (2009) Mutational analysis of the MEFV gene in Egyptian patients with familial Mediterranean fever. Turk J Med Sci 39:229-234
15. Papadopoulos VP, Giaglis S, Mitroulis I, Ritis K (2008) The population genetics of familial Mediterranean fever: a metaanalysis study. Ann Hum Genet 72:752-756
16. Gkretsi V, Deltas C, Yapijakis C, Lamnissou K (2009) Screening for familial Mediterranean fever M694V and V726A mutations in the Greek population. Genet Test Mol Biomarkers 13:291-293
17. Rawashdeh MO, Majeed HA (1996) Familial Mediterranean fever in Arab children: the high prevalence and gene frequency. Eur J Pediatr 155:540-541
18. Grateau G, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M et al (2000) Clinical versus genetic diagnosis of familial Mediterranean fever. QJM 93:223-229 (Pubitemid 30198959)
19. Duşunsel R, Dursun I, Gündüz Z, Poyrazoǧlu MH, Gürgöze MK, Dundar M (2008) Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population. Pediatr Int 50:208-212 (Pubitemid 351414780)
20. Inal A, Yilmaz M, Kendirli SG, Altintas DU, Karakoc GB (2009) The clinical and genetical features of 124 children with familial Mediterranean fever: experience of a single tertiary center. Rheumatol Int 29:1279-1285
21. Akin H, Onay H, Turker E, Cogulu O, Ozkinay F (2010) MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. Mol Biol Rep 37(1):93-98
22. Pasa S, Altintas A, Devecioglu B, Cil T, Danis R, Isi H et al (2008) Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features. Amyloid 15:49-53 (Pubitemid 351238494)
23. Onen F, Sumer H, Turkay S, Akyurek O, Tunca M, Ozdogan H (2004) Increased frequency of familial Mediterranean fever in Central Anatolia, Turkey. Clin Exp Rheumatol 22:S31-S33
24. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F et al (2005) Turkish FMF study group familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 84:1-11 (Pubitemid 40130180)
25. Sarkisiyan T, Ajrapetyan H, Shahsuvaryan G (2005) Molecular study in FMF patients in Armenia. Curr Drug Targets Inflamm Allergy 4:113-116 (Pubitemid 40584861)
26. Zaks N, Shinar Y, Padeh S, Lidar M, Mor A, Tokov I et al (2003) Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever. Isr Med Assoc J 5:585-588 (Pubitemid 36992254)
27. Demirkaya E, Tunca Y, Gok F, Ozen S, Gul D (2008) A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients. Clin Rheumatol 27(6):729-732
28. Yigit S, Bagci H, Ozkaya O, Ozdamar K, Cengiz K, Akpolat T (2008) MEFV mutations in patients with familial Mediterranean fever in the Black Sea region of Turkey: Samsun experience [corrected] J Rheumatol 35(1):106-113